Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv5922546

Organism: Homo sapiens

Study:nstd209 (Almarri et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:322

Publication(s):Almarri et al. 2020

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 315 SVs from 49 studies. See in: genome view

Submitted genomic17,104,697-17,105,018

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5922546	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	17,104,697	17,105,018
nsv5922546	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	16,962,206	16,962,527

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17448768	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17448768	Submitted genomic		NC_000008.11:g.171 04697_17105018del	GRCh38 (hg38)		NC_000008.11	Chr8	17,104,697	17,105,018
nssv17448768	Remapped	Perfect	NC_000008.10:g.169 62206_16962527del	GRCh37.p13	First Pass	NC_000008.10	Chr8	16,962,206	16,962,527

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

You are here: NCBI